Trichohepatoenteric syndrome: A rare mutation in SKIV2L gene in the first Balkan reported case.

Xinias, Ioannis; Mavroudi, Antigoni; Mouselimis, Dimitrios; Tsarouchas, Anastasios; Vasilaki, Konstantina; Roilides, Ioannis; Lacaille, Florence; Giouleme, Olga

Xinias, Ioannis; Mavroudi, Antigoni; Mouselimis, Dimitrios; Tsarouchas, Anastasios; Vasilaki, Konstantina; Roilides, Ioannis; Lacaille, Florence; Giouleme, Olga.

Afiliação

Xinias I; 3rd Pediatric Department, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Mavroudi A; 3rd Pediatric Department, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Mouselimis D; 3rd Pediatric Department, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Tsarouchas A; 3rd Pediatric Department, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Vasilaki K; 3rd Pediatric Department, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Roilides I; 3rd Pediatric Department, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.
Lacaille F; Necker-Enfants Malades Hospital, Paris, France.
Giouleme O; 2nd Pathologic Propaedeutic Clinic, Hippokration Hospital, Aristotle University of Thessaloniki, Thessaloniki, Greece.

SAGE Open Med Case Rep ; 6: 2050313X18807795, 2018.

Article em En | MEDLINE | ID: mdl-30397475

Palavras-chave

Gastroenterology/hepatology; failure to thrive; malabsorption; novel mutation; trichohepatoenteric syndrome

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Prognostic_studies Idioma: En Revista: SAGE Open Med Case Rep Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Grécia País de publicação: Reino Unido

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